Y. Oya

Y. Oya, G. Umemoto, T. Kikuta, 2009, Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry.

Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4

Y. Inoue, Takayoshi Inoue, I. Nishino, 2022, bioRxiv.

Respiratory and cardiac function in japanese patients with dysferlinopathy

N. Yonemoto, I. Nonaka, Y. Hayashi, 2016, Muscle & nerve.

I. Nishino, Toshiyuki Yamamoto, Yuji Takahashi, 2020, Journal of the Neurological Sciences.

Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies

I. Nishino, W. Liang, Y. Jong, 2016, Rheumatology.

Twitcher mice with only a single active galactosylceramide synthase gene exhibit clearly detectable but therapeutically minor phenotypic improvements

J. Matsuda, B. Popko, Kinuko Suzuki, 2000, Journal of neuroscience research.

Discovery of a protein uptake pathway in lysosomes

Y. Inoue, Takayoshi Inoue, I. Nishino, 2020 .

Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review.

I. Nishino, Yuji Takahashi, T. Taminato, 2019, Journal of neuromuscular diseases.

Respiratory Dysfunction in Becker Muscular Dystrophy Patients: A Case Series and Autopsy Report.

I. Nishino, Yuji Takahashi, N. Minami, 2020, Journal of neuromuscular diseases.

Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report

I. Nishino, Y. Aoki, Yuji Takahashi, 2020, Journal of Human Genetics.

Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations

M. Sonoo, Y. Hayashi, I. Nishino, 2012, Journal of the Neurological Sciences.

Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing

Yoshihiko Saito, Y. Goto, I. Nishino, 2022, Journal of Translational Medicine.

Treatable renal failure found in non-ambulatory Duchenne muscular dystrophy patients

M. Sasaki, M. Murata, K. Sugai, 2015, Neuromuscular Disorders.

Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2

I. Nonaka, Y. Hayashi, I. Nishino, 2012, Clinical Neurology and Neurosurgery.

Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy

Soichiro Kishi, Y. Matsuzaka, Y. Aoki, 2014, Environmental Health and Preventive Medicine.

Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B

I. Nishino, A. Watanabe, A. Iida, 2018, Journal of the Neurological Sciences.

Two cases of sporadic late onset nemaline myopathy effectively treated with immunotherapy.

I. Nishino, M. Murata, T. Okamoto, 2016, Rinsho shinkeigaku = Clinical neurology.

Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology

I. Nonaka, Y. Hayashi, I. Nishino, 2012, Neuromuscular Disorders.

[Two cases of nemaline myopathy presenting with hypertrophy of distal limbs with prominent asymmetry].

I. Nishino, Yuji Takahashi, M. Mori-Yoshimura, 2017, Rinsho shinkeigaku = Clinical neurology.

DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions

I. Nonaka, Y. Hayashi, I. Nishino, 2013, Neuromuscular Disorders.

Characterization and Functional Analysis of Extracellular Vesicles and Muscle-Abundant miRNAs (miR-1, miR-133a, and miR-206) in C2C12 Myocytes and mdx Mice

Y. Matsuzaka, U. Rüegg, A. Ishiyama, 2016, PloS one.

Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy

I. Nonaka, I. Nishino, A. Iida, 2019, Molecular genetics & genomic medicine.

Clinical characteristics of dysphagic inclusion body myositis

I. Nishino, Toshiyuki Yamamoto, Yuji Takahashi, 2022, Neuromuscular Disorders.

More prominent fibrosis of the cricopharyngeal muscle in inclusion body myositis

Jun Shinmi, I. Nishino, Toshiyuki Yamamoto, 2021, Journal of the Neurological Sciences.

Cricopharyngeal bar on videofluoroscopy: high specificity for inclusion body myositis

Jun Shinmi, I. Nishino, Toshiyuki Yamamoto, 2020, Journal of Neurology.

[Therapeutic trial of beta 2-adrenergic agonist clenbuterol in muscular dystrophies].

Y. Oya, M. Kawai, M. Ogawa, 2001, Rinsho shinkeigaku = Clinical neurology.

Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy

I. Nishino, Tomohiro Hayashi, Yuji Takahashi, 2021, Neuropathology and applied neurobiology.

CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations

R. Hanajima, Zhaoxia Wang, I. Nonaka, 2020, medRxiv.

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

I. Nonaka, I. Nishino, K. Chida, 2002, Neurology.

[Adult form of acid maltase deficiency presenting with pattern of muscle weakness resembling facioscapulohumeral dystrophy].

I. Nonaka, S. Tsujino, H. Morita, 2001, Rinsho shinkeigaku = Clinical neurology.

Chronic sarcoid myopathy mimicking sporadic inclusion body myositis

I. Nishino, Toshiyuki Yamamoto, Yuji Takahashi, 2019, Clinical Neurology and Neurosurgery.

RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy

M. Hagiwara, I. Nishino, T. Awaya, 2022, Human Genetics.

A case of delayed diagnosis of Becker muscular dystrophy due to underlying developmental disorders

I. Nishino, Yuji Takahashi, N. Sato, 2021, Brain and Development.

Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study

I. Nishino, Yuji Takahashi, K. Mizuno, 2022, BMJ Neurology Open.

Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2

S. Tsuji, J. Kira, S. Morishita, 2016, Annals of neurology.

[Beneficial effects of 3,4-diaminopyridine in a 26-year-old woman with DOK7 congenital myasthenic syndrome who was originally diagnosed with facioscapulohumeral dystrophy].

K. Ohno, M. Murata, T. Nakata, 2014, Rinshō shinkeigaku Clinical neurology.

Chronic Myopathy Associated With Anti–Signal Recognition Particle Antibodies Can Be Misdiagnosed As Facioscapulohumeral Muscular Dystrophy

M. Sonoo, Y. Hayashi, I. Nishino, 2016, Journal of clinical neuromuscular disease.

Phenotype of a limb-girdle congenital myasthenic syndrome patient carrying a GFPT1 mutation

I. Nishino, Yuji Takahashi, S. Noguchi, 2019, Brain and Development.

A 67‐Year‐Old Man with Leg Weakness and Hypertrophic Cardiomyopathy

I. Nishino, S. Ikeda, Yuji Takahashi, 2020, Brain pathology.

Pathological study of mice with total deficiency of sphingolipid activator proteins (SAP knockout mice)

K. Suzuki, Kinuko Suzuki, Y. Oya, 1998, Acta Neuropathologica.

Acute autonomic sensory and motor neuropathy associated with parvovirus B19 infection

N. Higurashi, M. Sasaki, E. Nakagawa, 2011, Brain and Development.

Cardiac conduction disturbances and aging in patients with Duchenne muscular dystrophy

Yuji Takahashi, M. Sasaki, H. Tachimori, 2017, Medicine.

Whole-Brain Voxel-Based Correlation Analysis between Regional Cerebral Blood Flow and Intelligence Quotient Score in Parkinson’s Disease

K. Oishi, Y. Oya, M. Kawai, 2004, European Neurology.

ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features

Yoshihiko Saito, T. Kanda, I. Nonaka, 2020, Neurology.

d-Cycloserine for the treatment of ataxia in spinocerebellar degeneration

H. Shigeto, Toshiyuki Yamamoto, T. Nishikawa, 2003, Journal of the Neurological Sciences.

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy

Kazuki Z. Yamamoto, Y. Okada, M. Sekijima, 2022, Scientific reports.

A 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review

I. Nishino, Yuji Takahashi, T. Fukuda, 2022, Neuromuscular Disorders.

A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene

H. Hattori, D. Ito, N. Suzuki, 2007, European journal of neurology.

Massive accumulation of 11C-Pittsburg compound B in the occipital lobes of a patient with early-onset dementia accompanied by muscle weakness and hypertonicity

H. Matsuda, K. Kamiya, Y. Nakata, 2013, Annals of Nuclear Medicine.

Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)

Y. Hayashi, I. Nishino, S. Noguchi, 2012, Neuromuscular Disorders.

[Successful treatment of recurrent hypoglycemia by pioglitazone in a patient with myotonic dystrophy].

I. Nonaka, Toshiyuki Yamamoto, M. Murata, 2009, Rinsho shinkeigaku = Clinical neurology.

Unique Lewy pathology in myotonic dystrophy type 1

I. Nishino, M. Hoshino, S. Murayama, 2022, Neuropathology : official journal of the Japanese Society of Neuropathology.

Biochemistry and neuropathology of mice doubly deficient in synthesis and degradation of galactosylceramide

J. Matsuda, B. Popko, Kinuko Suzuki, 2000, Journal of neuroscience research.

FSHD-like patients without 4q35 deletion

Y. Hayashi, I. Nishino, K. Goto, 2004, Journal of the Neurological Sciences.

[Case of suspected multiple sclerosis with transcallosal lesions involving the upper surface of the corpus callosum].

Harumasa Nakamura, Y. Oya, M. Kawai, 2008, Rinsho shinkeigaku = Clinical neurology.

[Spontaneous improvement of subacute exacerbation in a case of sensory ataxic neuropathy associated with Sjögren's syndrome].

H. Shigeto, Y. Oya, M. Kawai, 2001, Rinsho shinkeigaku = Clinical neurology.

[An experience of administration of modafinil for excessive daytime sleepiness in a patient with myotonic dystorophy].

Y. Oya, M. Kawai, Mikiya Suzuki, 2010, Rinsho shinkeigaku = Clinical neurology.

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.

Yoshihiko Saito, K. Claeys, E. Malfatti, 2023, Journal of neurology.

Sick sinus syndrome concomitant with myopathy associated with anti-mitochondrial antibodies: a case report

I. Nishino, T. Yoshikawa, S. Yoshizawa, 2022, European heart journal. Case reports.

Anti-mitochondrial antibody–mediated myopathy with cardiac involvement: reply

I. Nishino, S. Yoshizawa, Y. Oya, 2023, European heart journal. Case reports.

Transgenic introduction of human galactosylceramidase into twitcher mouse: Significant phenotype improvement with a minimal expression

B. Popko, Kinuko Suzuki, D. Wenger, 1997 .

New MRI Findings in Fukuyama Congenital Muscular Dystrophy: Brain Stem and Venous System Anomalies

H. Matsuda, M. Sasaki, N. Sato, 2020, American Journal of Neuroradiology.

[Facioscapulohumeral muscular dystrophy with sinus dysfunction].

H. Shigeto, Y. Oya, T. Tamura, 2002, Rinsho shinkeigaku = Clinical neurology.